Variant Gene N. diseases v DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Score vda EI vda N. PMIDs First Ref. Last Ref.
dbSNP: rs11039149
rs11039149
6 0.827 0.280 11 47255124 intron variant A/G snv 0.19 0.010 1.000 1 2011 2011
dbSNP: rs11085754
rs11085754
2 0.925 0.120 19 11017920 intron variant A/G snv 0.41 0.010 1.000 1 2015 2015
dbSNP: rs11615
rs11615
62 0.572 0.640 19 45420395 synonymous variant A/G snv 0.50 0.55 0.010 1.000 1 2019 2019
dbSNP: rs1169296
rs1169296
1 1.000 0.120 12 120990604 intron variant A/G snv 0.26 0.700 1.000 1 2019 2019
dbSNP: rs1209809979
rs1209809979
3 0.925 0.120 1 45568989 missense variant A/G snv 4.0E-06 0.010 1.000 1 2009 2009
dbSNP: rs12456874
rs12456874
2 0.925 0.120 18 13366863 intron variant A/G snv 0.20 0.700 1.000 1 2014 2014
dbSNP: rs1318
rs1318
2 0.925 0.120 17 67695266 3 prime UTR variant A/G snv 0.30 0.010 1.000 1 2015 2015
dbSNP: rs138147246
rs138147246
2 0.925 0.120 3 9756551 synonymous variant A/G snv 8.0E-06 1.4E-05 0.010 1.000 1 2014 2014
dbSNP: rs1547374
rs1547374
2 0.925 0.120 21 42358786 downstream gene variant A/G snv 0.32 0.700 1.000 1 2011 2011
dbSNP: rs1801275
rs1801275
58 0.581 0.680 16 27363079 missense variant A/G snv 0.25 0.36 0.010 1.000 1 2007 2007
dbSNP: rs1801394
rs1801394
101 0.531 0.840 5 7870860 missense variant A/G snv 0.47 0.45 0.010 1.000 1 2008 2008
dbSNP: rs1805087
rs1805087
MTR
135 0.496 0.800 1 236885200 missense variant A/G snv 0.20 0.21 0.010 1.000 1 2008 2008
dbSNP: rs1810205
rs1810205
2 0.925 0.120 10 16923228 intron variant A/G snv 0.47 0.010 1.000 1 2015 2015
dbSNP: rs361052
rs361052
1 1.000 0.120 3 13029299 intron variant A/G snv 0.73 0.700 1.000 1 2017 2017
dbSNP: rs371609024
rs371609024
2 0.925 0.120 14 65629530 missense variant A/G snv 4.0E-06 0.010 1.000 1 2015 2015
dbSNP: rs4149086
rs4149086
2 0.925 0.120 12 21239517 3 prime UTR variant A/G snv 4.5E-04 0.010 1.000 1 2018 2018
dbSNP: rs4269383
rs4269383
3 0.882 0.120 6 155876368 intergenic variant A/G snv 0.37 0.700 1.000 1 2011 2011
dbSNP: rs4619
rs4619
3 0.882 0.160 7 45893070 missense variant A/G snv 0.36 0.38 0.010 1.000 1 2012 2012
dbSNP: rs4795218
rs4795218
2 0.925 0.120 17 37718512 intron variant A/G snv 0.82 0.710 < 0.001 1 2018 2018
dbSNP: rs4994
rs4994
65 0.578 0.640 8 37966280 missense variant A/G snv 0.11 9.2E-02 0.010 1.000 1 2014 2014
dbSNP: rs5768709
rs5768709
2 0.925 0.120 22 48533757 intron variant A/G snv 0.36 0.700 1.000 1 2011 2011
dbSNP: rs687289
rs687289
ABO
15 1.000 0.120 9 133261703 intron variant A/G snv 0.700 1.000 1 2014 2014
dbSNP: rs708224
rs708224
2 0.925 0.120 12 32283475 intron variant A/G snv 0.50 0.700 1.000 1 2010 2010
dbSNP: rs746284240
rs746284240
11 0.763 0.240 12 68809243 missense variant A/G snv 0.010 1.000 1 2014 2014
dbSNP: rs747601652
rs747601652
2 0.925 0.120 1 74723233 missense variant A/G snv 1.2E-05 0.010 1.000 1 2011 2011